Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Angad, Jolly"'
Autor:
Piero Franco, M.D., Angad Jolly, M.D., Elisabeth Abermann, M.D., Christian Fink, M.D., Christian Hoser, M.D.
Publikováno v:
Arthroscopy Techniques, Vol 13, Iss 11, Pp 103107- (2024)
Meniscal root tears are recognized as an important pathology. Failure to recognize and to treat this pathology could lead to early-onset osteoarthritis, similar to a total meniscectomy. Surgical treatment is essential to restore meniscal function and
Externí odkaz:
https://doaj.org/article/0e94f03215c5413aabc491c42d5355e9
Autor:
Zain Dardas, Jawid M. Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski, Edward G. Jones, Shalini N. Jhangiani, Xander H. T. Wehrens, Pengfei Liu, Weimin Bi, Eric Boerwinkle, Jennifer E. Posey, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Zeynep Coban-Akdemir, Shaine A. Morris
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-20 (2024)
Abstract Background NODAL signaling plays a critical role in embryonic patterning and heart development in vertebrates. Genetic variants resulting in perturbations of the TGF-β/NODAL signaling pathway have reproducibly been shown to cause laterality
Externí odkaz:
https://doaj.org/article/732bd51decf14dba8374c1b62dec21e8
Autor:
Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Abstract CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising c
Externí odkaz:
https://doaj.org/article/70ae196c8ca74a8b9e9771ee7476f1a8
Autor:
Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard A. Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C. Cox, Andrew K. Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E. Antonarakis
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
Abstract Craniofacial microsomia (CFM; also known as Goldenhar syndrome), is a craniofacial developmental disorder of variable expressivity and severity with a recognizable set of abnormalities. These birth defects are associated with structures deri
Externí odkaz:
https://doaj.org/article/1d57089cec0e40f9ac05f0b75d18ed43
Autor:
Haowei Du, Angad Jolly, Christopher M. Grochowski, Bo Yuan, Moez Dawood, Shalini N. Jhangiani, He Li, Donna Muzny, Jawid M. Fatih, Zeynep Coban-Akdemir, Mary Esther Carlin, Angela E. Scheuerle, Karin Witzl, Jennifer E. Posey, Matthew Pendleton, Eoghan Harrington, Sissel Juul, P. J. Hastings, Weimin Bi, Richard A. Gibbs, Fritz J. Sedlazeck, James R. Lupski, Claudia M. B. Carvalho, Pengfei Liu
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-21 (2022)
Abstract Background The multiple de novo copy number variant (MdnCNV) phenotype is described by having four or more constitutional de novo CNVs (dnCNVs) arising independently throughout the human genome within one generation. It is a rare peri-zygoti
Externí odkaz:
https://doaj.org/article/fea7d8f692a64a578e2bc6531220b304
Autor:
Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100188- (2023)
Summary: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated se
Externí odkaz:
https://doaj.org/article/cb1320d2b3eb48cfacde06337026d1f0
Autor:
Qian, Xuyu, DeGennaro, Ellen M., Talukdar, Maya, Akula, Shyam K., Lai, Abbe, Shao, Diane D., Gonzalez, Dilenny, Marciano, Jack H., Smith, Richard S., Hylton, Norma K., Yang, Edward, Bazan, J. Fernando, Barrett, Lee, Yeh, Rebecca C., Hill, R. Sean, Beck, Samantha G., Otani, Aoi, Angad, Jolly, Mitani, Tadahiro, Posey, Jennifer E., Pehlivan, Davut, Calame, Daniel, Aydin, Hatip, Yesilbas, Osman, Parks, Kendall C., Argilli, Emanuela, England, Eleina, Im, Kiho, Taranath, Ajay, Scott, Hamish S., Barnett, Christopher P., Arts, Peer, Sherr, Elliott H., Lupski, James R., Walsh, Christopher A.
Publikováno v:
In Developmental Cell 24 October 2022 57(20):2381-2396
Publikováno v:
Reconstructive Review, Vol 12, Iss 1 (2022)
Background: There have been multiple ways to measure outcomes post total knee arthroplasty. Ultimate goal is to replicate a natural joint to allow patients to perform most activities of daily living and give high satisfaction rates. Patient reporte
Externí odkaz:
https://doaj.org/article/a9efb8eaa9fc4fb79e8352be5ec136f1
Autor:
Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100074- (2022)
Summary: Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia
Externí odkaz:
https://doaj.org/article/111938d44884445f92d7831c96a453cf
Autor:
Ann M. Mc Cartney, Medhat Mahmoud, Michael Jochum, Daniel Paiva Agustinho, Barry Zorman, Ahmad Al Khleifat, Fawaz Dabbaghie, Rupesh K Kesharwani, Moritz Smolka, Moez Dawood, Dreycey Albin, Elbay Aliyev, Hakeem Almabrazi, Ahmed Arslan, Advait Balaji, Sairam Behera, Kimberley Billingsley, Daniel L Cameron, Joyjit Daw, Eric T. Dawson, Wouter De Coster, Haowei Du, Christopher Dunn, Rocio Esteban, Angad Jolly, Divya Kalra, Chunxiao Liao, Yunxi Liu, Tsung-Yu Lu, James M Havrilla, Michael M Khayat, Maximillian Marin, Jean Monlong, Stephen Price, Alejandro Rafael Gener, Jingwen Ren, Sagayamary Sagayaradj, Nicolae Sapoval, Claude Sinner, Daniela C. Soto, Arda Soylev, Arun Subramaniyan, Najeeb Syed, Neha Tadimeti, Pamella Tater, Pankaj Vats, Justin Vaughn, Kimberly Walker, Gaojianyong Wang, Qiandong Zeng, Shangzhe Zhang, Tingting Zhao, Bryce Kille, Evan Biederstedt, Mark Chaisson, Adam English, Zev Kronenberg, Todd J. Treangen, Timothy Hefferon, Chen-Shan Chin, Ben Busby, Fritz J Sedlazeck
Publikováno v:
F1000Research, Vol 10 (2021)
In October 2020, 62 scientists from nine nations worked together remotely in the Second Baylor College of Medicine & DNAnexus hackathon, focusing on different related topics on Structural Variation, Pan-genomes, and SARS-CoV-2 related research. The o
Externí odkaz:
https://doaj.org/article/52994138986c4640b0eb0fcc835acd81